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  1. No Access

    Article

    A therapeutic trial withN-acetylcysteine in subjects with hereditary glutathione synthetase deficiency (5-oxoprolinuria)

    In a therapeutic trial, the effect of short-term low-dosageN-acetylcysteine supplementation on glutathione metabolism was investigated in two patients with hereditary glutathione deficiency (5-oxoprolinuria). Cli...

    J. Mårtensson M.D., Ph.D., J. Gustafsson… in Journal of Inherited Metabolic Disease (1989)

  2. Article

    Autoantibodies against a novel 51 kDa islet antigen and glutamate decarboxylase isoforms in autoimmune polyendocrine syndrome type I

    Beta-cell function and islet cell antibodies were studied in six patients with autoimmune polyendocrine syndrome type I. All suffered from mucocutaneous candidiasis, five had adrenocortical insufficiency and t...

    L. A. Velloso, O. Winqvist, J. Gustafsson, O. Kämpe, F. A. Karlsson in Diabetologia (1994)

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    Article

    Pubertal development and final height after autologous bone marrow transplantation for acute lymphoblastic leukemia

    We describe pubertal development and growth in 17 children who underwent bone marrow transplantation (BMT), including total body irradiation (TBI) for ALL. Seven children also received cranial irradiation (CI)...

    P Frisk, J Arvidson, J Gustafsson, G Lönnerholm in Bone Marrow Transplantation (2004)

  4. No Access

    Article

    Increased lipolysis in LCHAD deficiency

    An increasing number of fatty acid oxidation defects are being detected owing to diagnostic improvements and a greater awareness among clinicians. The metabolic block leads to energy disruption, fatty infiltra...

    M. U. Halldin, A. Forslund, U. von Döbeln… in Journal of Inherited Metabolic Disease (2007)

  5. No Access

    Article

    Tissue repair using allogeneic mesenchymal stem cells for hemorrhagic cystitis, pneumomediastinum and perforated colon

    Mesenchymal stem cells (MSC) possess anti-inflammatory properties and participate in tissue repair. We used MSC to heal therapy-induced tissue toxicity. Ten consecutive patients, treated with MSC due to tissue...

    O Ringdén, M Uzunel, B Sundberg, L Lönnies, S Nava, J Gustafsson, L Henningsohn… in Leukemia (2007)

  6. No Access

    Article

    Glucose metabolism and body composition in young adults treated with TBI during childhood

    After SCT in childhood, survivors may develop disorders of glucose metabolism. The role of obesity is controversial. We measured insulin sensitivity using the homeostasis model assessment (HOMA) and the freque...

    P Frisk, S M Rössner, S Norgren, J Arvidson, J Gustafsson in Bone Marrow Transplantation (2011)

  7. No Access

    Article

    Decreased bone mineral density in young adults treated with SCT in childhood: the role of 25-hydroxyvitamin D

    We measured bone mineral density (BMD) with dual-energy X-ray absorptiometry in the total body, at the lumbar spine, at the femoral neck and in the total hip, in 18 young adults with a median of 18.2 years aft...

    P Frisk, J Arvidson, Ö Ljunggren, J Gustafsson in Bone Marrow Transplantation (2012)

  8. Article

    Erratum to: Increased and early lipolysis in children with long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency during fast

    C. Bieneck Haglind, A. Nordenström, S. Ask… in Journal of Inherited Metabolic Disease (2015)

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  9. No Access

    Article

    Increased and early lipolysis in children with long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency during fast

    Children with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHAD) have a defect in the degradation of long-chain fatty acids and are at risk of hypoketotic hypoglycemia and insufficient energy produc...

    C. Bieneck Haglind, A. Nordenström, S. Ask… in Journal of Inherited Metabolic Disease (2015)